TY - GEN
T1 - Molecular analysis in exons 1 and 2 of the tripeptidyl peptidase 1 (TPP1) gene on patients with neuronal ceroid lipofuscinosis type 2 (CLN2) in Indonesia
AU - Evani, Selsa
AU - Pangestu, Haryo Seno
AU - Arisandi, Muhammad Rafi
AU - Prakoso, Nurul Muhammad
AU - Priambodo, Rizky
AU - Pambudi, Bobby
AU - Hafifah, Cut Nurul
AU - Aswin, Yulia Ariani
AU - Lestari, Retno
AU - Sjarif, Damayanti Rusli
N1 - Publisher Copyright:
© 2024 Author(s).
PY - 2024/2/6
Y1 - 2024/2/6
N2 - Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an inborn error of metabolism due to the lack of catalytically-active tripeptidyl-peptidase (TPP1) enzyme encoded by the faulty human TPP1 gene. This study aims to identify the pathogenic variant that might be classified as the causal variant for CLN2 in Indonesia. This study focuses on the exon 1 to exon 2 since these regions are important sites for the synthesis of signal peptides of TPP1 enzyme. The subjects in this study were comprised of three patients confirmed with CLN2 disease and 20 healthy individuals as control. The detection of DNA variants was initiated by DNA extraction, primer design specific for the exons 1 and 2, DNA amplification by polymerase chain reaction (PCR) followed by visualization with gel electrophoresis, and continued by Sanger Sequencing. According to our analysis, we did not detect any clinically relevant variants in exons 1 and 2 of the TPP1 gene that might be the cause of CLN2 disease in our patients. However, we report c.17+16G>C variant in intron 1 of a healthy individual as we propose to classify this variant as benign. More research to detect disease-causing variants in three CLN2 patients in Indonesia needs to be continued to confirm the genetic diagnosis of CLN2 and discover the genetic etiology of CLN2 in our patients.
AB - Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an inborn error of metabolism due to the lack of catalytically-active tripeptidyl-peptidase (TPP1) enzyme encoded by the faulty human TPP1 gene. This study aims to identify the pathogenic variant that might be classified as the causal variant for CLN2 in Indonesia. This study focuses on the exon 1 to exon 2 since these regions are important sites for the synthesis of signal peptides of TPP1 enzyme. The subjects in this study were comprised of three patients confirmed with CLN2 disease and 20 healthy individuals as control. The detection of DNA variants was initiated by DNA extraction, primer design specific for the exons 1 and 2, DNA amplification by polymerase chain reaction (PCR) followed by visualization with gel electrophoresis, and continued by Sanger Sequencing. According to our analysis, we did not detect any clinically relevant variants in exons 1 and 2 of the TPP1 gene that might be the cause of CLN2 disease in our patients. However, we report c.17+16G>C variant in intron 1 of a healthy individual as we propose to classify this variant as benign. More research to detect disease-causing variants in three CLN2 patients in Indonesia needs to be continued to confirm the genetic diagnosis of CLN2 and discover the genetic etiology of CLN2 in our patients.
UR - http://www.scopus.com/inward/record.url?scp=85185780370&partnerID=8YFLogxK
U2 - 10.1063/5.0171302
DO - 10.1063/5.0171302
M3 - Conference contribution
AN - SCOPUS:85185780370
T3 - AIP Conference Proceedings
BT - AIP Conference Proceedings
A2 - Kusuma, Andyka
A2 - Fatriansyah, Jaka Fajar
A2 - Dhelika, Radon
A2 - Pratama, Mochamad Adhiraga
A2 - Irwansyah, Ridho
A2 - Maknun, Imam Jauhari
A2 - Putra, Wahyuaji Narottama
A2 - Ardi, Romadhani
A2 - Harwahyu, Ruki
A2 - Harahap, Yulia Nurliani
A2 - Lischer, Kenny
PB - American Institute of Physics Inc.
T2 - 17th International Conference on Quality in Research, QiR 2021 in conjunction with the International Tropical Renewable Energy Conference 2021, I-Trec 2021 and the 2nd AUN-SCUD International Conference, CAIC-SIUD
Y2 - 13 October 2021 through 15 October 2021
ER -
